ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.40+15G>A

gnomAD frequency: 0.00978  dbSNP: rs80239182
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443226 SCV000522308 benign not specified 2016-02-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515084 SCV000610957 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002521612 SCV003258528 benign Alacrima, achalasia, and intellectual disability syndrome 2024-10-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000515084 SCV005258915 likely benign not provided criteria provided, single submitter not provided

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